nsv3906245
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:82,937,699
- Description:GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 248512 SVs from 154 studies. See in: genome view
Overlapping variant regions from other studies: 242793 SVs from 155 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3906245 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 162,553 | 83,100,251 |
| nsv3906245 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 12,344 | 81,057,996 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15159027 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000739325.2, VCV000602689.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15159027 | Remapped | Good | NC_000017.11:g.(?_ 162553)_(83100251_ ?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 162,553 | 83,100,251 |
| nssv15159027 | Submitted genomic | NC_000017.10:g.(?_ 12344)_(81057996_? )dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 12,344 | 81,057,996 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15159027 | GRCh37: NC_000017.10:g.(?_12344)_(81057996_?)dup | copy number gain | unknown | not provided | Pathogenic | ClinVar | RCV000739325.2, VCV000602689.2 | 3 |